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syndromic X-linked intellectual disability 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndromic X-linked intellectual disability 12

MONDO:0010658

Also known as:X-linked intellectual disability, Wilson typeintellectual disability, X-linked, syndromic 12mental retardation, X-linked, syndromic 12

Overview

X-linked intellectual disability, Wilson type is characterized by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localized to the 11p region of the X chromosome.

GeneticsX-linked

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Growth delay, Mutism, Abnormal position of hair whorl, and Severe intellectual disability and others; and sometimes findings: Inguinal hernia, Hydrocele testis, Microcephaly, and Lateral ventricle dilatation and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Delayed speech and language development, Seizure, Aphasia

Diagnosis

Biomarker and diagnostic research for syndromic X-linked intellectual disability 12 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for syndromic X-linked intellectual disability 12.

114 publications have been identified in PubMed for syndromic X-linked intellectual disability 12. Research spans Case Report / Case Series (22%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Patient case studies	24	22%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:309545

Orphanet

European rare disease database

Orphanet:85290

GARD

Genetic and Rare Diseases Info Center

GARD:16747

Questions for Your Care Team

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syndromic X-linked intellectual disability 12

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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Recent Publications

syndromic X-linked intellectual disability 12

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications